European Journal of Pediatrics

, Volume 167, Issue 2, pp 203–209

Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses

  • Marcelina Malinowska
  • Joanna Jakóbkiewicz-Banecka
  • Anna Kloska
  • Anna Tylki-Szymańska
  • Barbara Czartoryska
  • Ewa Piotrowska
  • Alicja Węgrzyn
  • Grzegorz Węgrzyn
Original Paper

DOI: 10.1007/s00431-007-0462-7

Cite this article as:
Malinowska, M., Jakóbkiewicz-Banecka, J., Kloska, A. et al. Eur J Pediatr (2008) 167: 203. doi:10.1007/s00431-007-0462-7

Abstract

Mucopolysaccharidoses (MPS) are a group of inherited, progressive, metabolic diseases, caused by the deficiency of one of the enzymes involved in the degradation of glycosaminoglycans (GAGs). The disease is usually fatal, with the life span of most untreated MPS patients being between one and two decades. In this report, on the basis of scanning electron microscopy (SEM) studies, we demonstrate that, besides the many other symptoms of MPS, there are characteristic abnormalities in the hair morphology of patients suffering from some types of this disease (MPS I, MPS II, MPS IIIA, MPS IIIB), but not from other types (MPS IVA, MPS IVB, MPS VI), where the changes are minor, if any. Different GAGs accumulate in the tissues of patients suffering from the various MPS types, and analysis of the disease types in which severe hair abnormalities occur or not could suggest that the accumulation of heparan sulfate, rather than dermatan sulfate or keratan sufate, may be responsible for the major changes in hair morphology. Considerable abnormalities in hair morphology occur in patients suffering from MPS I, MPS II, MPS IIIA, and MPS IIIB, but not in patients suffering from MPS IVA, MPS IVB, and MPS VI; this feature might potentially be used as an additional test for the assessment of the efficacy of treatments for MPS patients (types I, II, IIIA, and IIIB).

Keywords

MucopolysaccharidosesHair dysmorphologyScanning electron microscopyDiagnostic tools

Abbreviations

DS

dermatan sulfate

GAG

glycosaminoglycan

HS

heparan sulfate

KS

keratan sulfate

MPS

mucopolysaccharidosis

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Marcelina Malinowska
    • 1
  • Joanna Jakóbkiewicz-Banecka
    • 2
  • Anna Kloska
    • 1
  • Anna Tylki-Szymańska
    • 3
  • Barbara Czartoryska
    • 4
  • Ewa Piotrowska
    • 1
  • Alicja Węgrzyn
    • 2
  • Grzegorz Węgrzyn
    • 1
  1. 1.Department of Molecular BiologyUniversity of GdańskGdańskPoland
  2. 2.Laboratory of Molecular Biology (affiliated with the University of Gdańsk), Institute of Biochemistry and BiophysicsPolish Academy of SciencesGdańskPoland
  3. 3.Department of Metabolic DiseasesThe Children’s Memorial Health InstituteWarsawPoland
  4. 4.Department of GeneticsInstitute of Psychiatry and NeurologyWarsawPoland